L11F (p.Leu11Phe) variant of SGCA (Alpha-sarcoglycan)
L11F (p.Leu11Phe) in SGCA (Alpha-sarcoglycan) 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 0.46 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs1164863952
- NCI-TCGA Cosmic COSV5625
- cosmic curated COSV56251
- TOPMed rs1164863952
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.49
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available