V94V (p.Val94Val) variant of NIPBL (Nipped-B-like protein)
V94V (p.Val94Val) in NIPBL (Nipped-B-like protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V94V (p.Val94Val) variant details
- p.Val94Val
- gnomAD 5-36958155-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available