A24V (p.Ala24Val) variant of PIEZO2 (Q9H5I5)
A24V (p.Ala24Val) in PIEZO2 (Q9H5I5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gordon syndrome; Arthrogryposis, distal, with impaired proprioception and touch. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs759000106
- ClinGen CA8892883
- ClinVar RCV002266837
- ExAC rs759000106
- Uncertain significance
- Gordon syndrome; Arthrogryposis, distal, with impaired proprioception and touch
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.15
- MetaSVM -0.89
- CADD 27.20
- ClinVar: Uncertain significance (Gordon syndrome; Arthrogryposis, distal, with impaired proprioce)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00013)
- Structural context available