V8V (p.Val8Val) variant of SPINK5 (Q9NQ38)
V8V (p.Val8Val) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V8V (p.Val8Val) variant details
- p.Val8Val
- rs1231950922
- gnomAD 5-148064068-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 4.17
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available