A177V (p.Ala177Val) variant of PICALM (Q13492)
A177V (p.Ala177Val) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A177V (p.Ala177Val) variant details
- p.Ala177Val
- Ensembl rs2095455631
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available