D131N (p.Asp131Asn) variant of REN (Renin)
D131N (p.Asp131Asn) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D131N (p.Asp131Asn) variant details
- p.Asp131Asn
- rs1422936644
- ClinGen CA344339765
- NCI-TCGA Cosmic COSV6581
- cosmic curated COSV65818
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -1.00
- CADD 18.30
- PolyPhen-2 0.05
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)