G13A (p.Gly13Ala) variant of NCSTN (Nicastrin)
G13A (p.Gly13Ala) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 1-160343434-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available