F23V (p.Phe23Val) variant of NCSTN (Nicastrin)
F23V (p.Phe23Val) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
F23V (p.Phe23Val) variant details
- p.Phe23Val
- gnomAD 1-160343709-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.082
- REVEL 0.02
- CADD 8.58
- SIFT 0.00
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Literature evidence available