R43H (p.Arg43His) variant of MYO15A (Unconventional myosin-XV)
R43H (p.Arg43His) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- cosmic curated COSV99234
- TOPMed rs923156097
- gnomAD rs923156097
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 22.40
- PolyPhen-2 0.85
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available