I14V (p.Ile14Val) variant of PYGM (P11217)
I14V (p.Ile14Val) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- TOPMed rs2058423017
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.58
- ESM-1b 0.06
- AlphaMissense 0.71
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available