A22V (p.Ala22Val) variant of MYPN (Myopalladin)
A22V (p.Ala22Val) in MYPN (Myopalladin) 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 0.52 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- 1000Genomes rs145142157
- ESP rs145142157
- ExAC rs145142157
- TOPMed rs145142157
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.31
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available