Y5C (p.Tyr5Cys) variant of DES (Desmin)
Y5C (p.Tyr5Cys) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Y5C (p.Tyr5Cys) variant details
- p.Tyr5Cys
- gnomAD 2-219418476-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available