G30R (p.Gly30Arg) variant of DYSF (Dysferlin)
G30R (p.Gly30Arg) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- rs767637508
- cosmic curated COSV10876
- ClinGen CA1705179
- ClinVar RCV001969563
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)