R52H (p.Arg52His) variant of NCSTN (Nicastrin)
R52H (p.Arg52His) in NCSTN (Nicastrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R52H (p.Arg52His) variant details
- p.Arg52His
- NCI-TCGA Cosmic COSV9961
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available