S57L (p.Ser57Leu) variant of MYO15A (Unconventional myosin-XV)
S57L (p.Ser57Leu) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S57L (p.Ser57Leu) variant details
- p.Ser57Leu
- cosmic curated COSV52761
- ExAC rs770052089
- gnomAD rs770052089
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 23.70
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available