A28V (p.Ala28Val) variant of NCSTN (Nicastrin)
A28V (p.Ala28Val) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD 1-160343479-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 29.50
- PolyPhen-2 0.04
- SIFT 0.33
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available