L30V (p.Leu30Val) variant of PIEZO2 (Q9H5I5)
L30V (p.Leu30Val) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- ExAC rs760458761
- gnomAD rs760458761
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.47
- MetaSVM -0.18
- CADD 24.30
- Most common in the South Asian population (allele frequency 0.00028)
- Structural context available