G56V (p.Gly56Val) variant of SPINK5 (Q9NQ38)
G56V (p.Gly56Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- gnomAD 5-148070408-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.15
- MetaLR 0.08
- MetaSVM -1.03
- CADD 19.10
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available