S8A (p.Ser8Ala) variant of NCSTN (Nicastrin)
S8A (p.Ser8Ala) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S8A (p.Ser8Ala) variant details
- p.Ser8Ala
- gnomAD 1-160343418-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available