R15Q (p.Arg15Gln) variant of NCSTN (Nicastrin)
R15Q (p.Arg15Gln) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- gnomAD 1-160343440-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available