M175V (p.Met175Val) variant of PICALM (Q13492)
M175V (p.Met175Val) 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 0.41 / 1. The record also includes population frequency data and structural context.
M175V (p.Met175Val) variant details
- p.Met175Val
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available