P64H (p.Pro64His) variant of BAK1 (Q16611)
P64H (p.Pro64His) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P64H (p.Pro64His) variant details
- p.Pro64His
- gnomAD 6-33575808-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.02
- MetaLR 0.00
- MetaSVM -0.92
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available