T35S (p.Thr35Ser) variant of DYSF (Dysferlin)
T35S (p.Thr35Ser) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T35S (p.Thr35Ser) variant details
- p.Thr35Ser
- rs985470984
- ClinGen CA49750035
- ClinVar RCV003146980
- ClinVar RCV005824505
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.95
- MetaLR 0.86
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)