V50V (p.Val50Val) variant of NIPBL (Nipped-B-like protein)
V50V (p.Val50Val) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V50V (p.Val50Val) variant details
- p.Val50Val
- rs767626703
- gnomAD 5-36955557-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 10.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available