M1T (p.Met1Thr) variant of DYSF (Dysferlin)
M1T (p.Met1Thr) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1459713589
- ClinGen CA347205795
- ClinVar RCV000668555
- ClinVar RCV001377517
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- MetaLR 0.46
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- MutPred 0.84
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)