S53R (p.Ser53Arg) variant of SPINK5 (Q9NQ38)
S53R (p.Ser53Arg) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- gnomAD 5-148070400-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.10
- CADD 9.25
- PolyPhen-2 0.68
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available