A4G (p.Ala4Gly) variant of DES (Desmin)
A4G (p.Ala4Gly) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- gnomAD rs1231213195
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available