R106K (p.Arg106Lys) variant of KRIT1 (O00522)
R106K (p.Arg106Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
R106K (p.Arg106Lys) variant details
- p.Arg106Lys
- NCI-TCGA Cosmic COSV6066
- cosmic curated COSV60667
- TOPMed rs1798712153
- gnomAD rs1798712153
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.04
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available