A30V (p.Ala30Val) variant of EDN1 (Endothelin-1)
A30V (p.Ala30Val) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Question mark ears, isolated; Auriculocondylar syndrome 3; Inborn genetic diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- rs202087445
- ClinGen CA134217336
- ClinVar RCV004384557
- ClinVar RCV005392771
- Uncertain significance
- Question mark ears, isolated; Auriculocondylar syndrome 3; Inborn genetic diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -0.93
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Question mark ears, isolated; Auriculocondylar syndrome 3; Inbor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)