S4S (p.Ser4Ser) variant of DNAJC6 (Auxilin)
S4S (p.Ser4Ser) in DNAJC6 (Auxilin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs148507710
- gnomAD 1-65264922-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 13.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available