G8S (p.Gly8Ser) variant of DNAJC6 (Auxilin)
G8S (p.Gly8Ser) in DNAJC6 (Auxilin) 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, published literature, and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- gnomAD 1-65254538-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 15.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6.3e-05)
- Structural context available
- Literature evidence available