V87M (p.Val87Met) variant of PICALM (Q13492)
V87M (p.Val87Met) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V87M (p.Val87Met) variant details
- p.Val87Met
- Ensembl rs2136771689
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.66
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available