R157I (p.Arg157Ile) variant of PICALM (Q13492)
R157I (p.Arg157Ile) 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 0.66 / 1. The record also includes population frequency data and structural context.
R157I (p.Arg157Ile) variant details
- p.Arg157Ile
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.55
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available