A13V (p.Ala13Val) variant of SPINK5 (Q9NQ38)
A13V (p.Ala13Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 5-148064082-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- MetaLR 0.29
- MetaSVM -0.80
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available