R61H (p.Arg61His) variant of NRXN1 (Neurexin-1)
R61H (p.Arg61His) 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 0.41 / 1. The record also includes population frequency data and structural context.
R61H (p.Arg61His) variant details
- p.Arg61His
- rs202205785
- ExAC rs202205785
- gnomAD rs202205785
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.25
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available