V16A (p.Val16Ala) variant of PYGM (P11217)
V16A (p.Val16Ala) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- ExAC rs375188510
- gnomAD rs375188510
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.76
- ESM-1b 0.74
- AlphaMissense 0.86
- CADD 24.40
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available