A9T (p.Ala9Thr) variant of DYSF (Dysferlin)
A9T (p.Ala9Thr) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs887165313
- ClinGen CA49734222
- ClinVar RCV002634202
- gnomAD rs887165313
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.59
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)