R19H (p.Arg19His) variant of NCSTN (Nicastrin)
R19H (p.Arg19His) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Acne inversa, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs201530191
- ClinGen CA1198552
- ClinVar RCV003092647
- ClinVar RCV005399101
- Uncertain significance
- Inborn genetic diseases; not provided; Acne inversa, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Acne inversa, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available