V25V (p.Val25Val) variant of NCSTN (Nicastrin)
V25V (p.Val25Val) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V25V (p.Val25Val) variant details
- p.Val25Val
- gnomAD 1-160343471-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 12.90
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available