M68V (p.Met68Val) variant of SPINK5 (Q9NQ38)
M68V (p.Met68Val) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
M68V (p.Met68Val) variant details
- p.Met68Val
- gnomAD 5-148070443-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0666
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.92
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available