V136A (p.Val136Ala) variant of PICALM (Q13492)
V136A (p.Val136Ala) 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 0.39 / 1. The record also includes population frequency data and structural context.
V136A (p.Val136Ala) variant details
- p.Val136Ala
- NCI-TCGA Cosmic COSV6267
- cosmic curated COSV62670
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available