M58V (p.Met58Val) variant of SPINK5 (Q9NQ38)
M58V (p.Met58Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
M58V (p.Met58Val) variant details
- p.Met58Val
- gnomAD 5-148070413-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.94
- CADD 0.85
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available