R26K (p.Arg26Lys) variant of ABCG8 (Q9H221)
R26K (p.Arg26Lys) in ABCG8 (Q9H221) 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 0.33 / 1. The record also includes population frequency data and structural context.
R26K (p.Arg26Lys) variant details
- p.Arg26Lys
- NCI-TCGA Cosmic COSV5539
- cosmic curated COSV55396
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.19
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available