R64H (p.Arg64His) variant of NRXN1 (Neurexin-1)
R64H (p.Arg64His) in NRXN1 (Neurexin-1) 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 0.40 / 1. The record also includes population frequency data and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- rs200247365
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10127
- TOPMed rs200247365
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available