V8M (p.Val8Met) variant of SPINK5 (Q9NQ38)
V8M (p.Val8Met) 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 and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- ExAC rs777647928
- gnomAD rs777647928
- Missense
- Variant Prioritization Score for Impact Estimate 0.0701
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.96
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available