L14V (p.Leu14Val) variant of SPINK5 (Q9NQ38)
L14V (p.Leu14Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- cosmic curated COSV56261
- ExAC rs749263067
- gnomAD rs749263067
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.02
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available