P30T (p.Pro30Thr) variant of SGCA (Alpha-sarcoglycan)
P30T (p.Pro30Thr) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in LGMDR3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- gnomAD rs1327595249
- Likely pathogenic
- in LGMDR3
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.51
- CADD 18.70
- PolyPhen-2 0.38
- SIFT 0.01
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available