K112R (p.Lys112Arg) variant of PICALM (Q13492)
K112R (p.Lys112Arg) in PICALM (Q13492) 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 0.37 / 1. The record also includes population frequency data and structural context.
K112R (p.Lys112Arg) variant details
- p.Lys112Arg
- NCI-TCGA Cosmic COSV6266
- cosmic curated COSV62669
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- CADD 24.60
- PolyPhen-2 0.11
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available