K27R (p.Lys27Arg) variant of AQP4 (Aquaporin-4)
K27R (p.Lys27Arg) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- rs141793428
- ClinGen CA8922709
- ClinVar RCV004420040
- ESP rs141793428
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.24
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available