R38K (p.Arg38Lys) variant of NCSTN (Nicastrin)
R38K (p.Arg38Lys) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R38K (p.Arg38Lys) variant details
- p.Arg38Lys
- ExAC rs754692403
- gnomAD rs754692403
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available