L14F (p.Leu14Phe) variant of SGCA (Alpha-sarcoglycan)
L14F (p.Leu14Phe) in SGCA (Alpha-sarcoglycan) is a missense change. 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.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- Ensembl rs1904980546
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.37
- CADD 16.40
- PolyPhen-2 0.24
- SIFT 0.26
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available