P12A (p.Pro12Ala) variant of NCSTN (Nicastrin)
P12A (p.Pro12Ala) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- Ensembl rs1648210869
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available