C31G (p.Cys31Gly) variant of NCSTN (Nicastrin)
C31G (p.Cys31Gly) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
C31G (p.Cys31Gly) variant details
- p.Cys31Gly
- gnomAD 1-160344727-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.40
- PolyPhen-2 0.26
- SIFT 0.11
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available