A21V (p.Ala21Val) variant of DES (Desmin)
A21V (p.Ala21Val) in DES (Desmin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- ExAC rs755107287
- TOPMed rs755107287
- gnomAD rs755107287
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.22
- CADD 13.70
- PolyPhen-2 0.23
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available