L135V (p.Leu135Val) variant of GNAQ (P50148)
L135V (p.Leu135Val) in GNAQ (P50148) 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 0.59 / 1. The record also includes population frequency data and structural context.
L135V (p.Leu135Val) variant details
- p.Leu135Val
- rs1305477251
- NCI-TCGA Cosmic COSV5410
- TOPMed rs1305477251
- gnomAD rs1305477251
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.67
- MetaLR 0.81
- MetaSVM 0.54
- CADD 22.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available