K4R (p.Lys4Arg) variant of CALCRL (Q16602)
K4R (p.Lys4Arg) in CALCRL (Q16602) 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 0.07 / 1. The record also includes population frequency data and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- NCI-TCGA Cosmic COSV6647
- cosmic curated COSV66476
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.05
- CADD 2.79
- PolyPhen-2 0.00
- SIFT 0.61
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available