V136I (p.Val136Ile) variant of PICALM (Q13492)
V136I (p.Val136Ile) 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 0.33 / 1. The record also includes population frequency data and structural context.
V136I (p.Val136Ile) variant details
- p.Val136Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.10
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available