L33S (p.Leu33Ser) variant of DNAJC6 (Auxilin)
L33S (p.Leu33Ser) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L33S (p.Leu33Ser) variant details
- p.Leu33Ser
- rs1233618088
- gnomAD 1-65309828-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.27
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available