R52L (p.Arg52Leu) variant of NCSTN (Nicastrin)
R52L (p.Arg52Leu) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R52L (p.Arg52Leu) variant details
- p.Arg52Leu
- gnomAD 1-160344791-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 29.60
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Literature evidence available