S49G (p.Ser49Gly) variant of DNAJC6 (Auxilin)
S49G (p.Ser49Gly) in DNAJC6 (Auxilin) is a missense 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.
S49G (p.Ser49Gly) variant details
- p.Ser49Gly
- rs1331529842
- gnomAD 1-65309890-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available