R49K (p.Arg49Lys) variant of KRIT1 (O00522)
R49K (p.Arg49Lys) in KRIT1 (O00522) 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 0.34 / 1. The record also includes population frequency data and structural context.
R49K (p.Arg49Lys) variant details
- p.Arg49Lys
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.87
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:XIBO population (allele frequency 0.56)
- Structural context available