R13K (p.Arg13Lys) variant of GNAT1 (P11488)
R13K (p.Arg13Lys) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Congenital stationary night blindness autosomal dominant 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- rs201006405
- ClinGen CA2412421
- ClinVar RCV000299430
- ClinVar RCV001412336
- Benign/Likely benign
- not provided; Congenital stationary night blindness autosomal dominant 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.23
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not provided; Congenital stationary night blindness autosomal do)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available