A91V (p.Ala91Val) variant of PIEZO2 (Q9H5I5)
A91V (p.Ala91Val) in PIEZO2 (Q9H5I5) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- rs374753475
- ClinGen CA8892861
- ClinVar RCV003000241
- 1000Genomes rs374753475
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.75
- CADD 21.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)