S34P (p.Ser34Pro) variant of MYO15A (Unconventional myosin-XV)
S34P (p.Ser34Pro) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- gnomAD 17-18118900-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.50
- ESM-1b 0.47
- AlphaMissense 0.98
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available