P26H (p.Pro26His) variant of MYO15A (Unconventional myosin-XV)
P26H (p.Pro26His) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P26H (p.Pro26His) variant details
- p.Pro26His
- Ensembl rs866958211
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 22.50
- PolyPhen-2 0.89
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available