A2V (p.Ala2Val) variant of MYO15A (Unconventional myosin-XV)
A2V (p.Ala2Val) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- cosmic curated COSV52751
- 1000Genomes rs527582798
- ExAC rs527582798
- TOPMed rs527582798
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available