A2G (p.Ala2Gly) variant of MYO15A (Unconventional myosin-XV)
A2G (p.Ala2Gly) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs527582798
- ClinGen CA288413070
- ClinVar RCV003553174
- 1000Genomes rs527582798
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 15.40
- PolyPhen-2 0.25
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available