L79V (p.Leu79Val) variant of PICALM (Q13492)
L79V (p.Leu79Val) 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 0.69 / 1. The record also includes population frequency data and structural context.
L79V (p.Leu79Val) variant details
- p.Leu79Val
- rs1468771678
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Ensembl rs1468771678
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.63
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available