R15W (p.Arg15Trp) variant of NCSTN (Nicastrin)
R15W (p.Arg15Trp) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R15W (p.Arg15Trp) variant details
- p.Arg15Trp
- gnomAD 1-160343439-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Literature evidence available