P49S (p.Pro49Ser) variant of SGCA (Alpha-sarcoglycan)
P49S (p.Pro49Ser) 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.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- gnomAD rs1461861588
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.30
- CADD 18.60
- PolyPhen-2 0.67
- SIFT 0.20
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available