K32T (p.Lys32Thr) variant of DYSF (Dysferlin)
K32T (p.Lys32Thr) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K32T (p.Lys32Thr) variant details
- p.Lys32Thr
- rs539484245
- ClinGen CA1705218
- ClinVar RCV001244563
- ClinVar RCV001829933
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.91
- MetaLR 0.43
- MetaSVM -0.27
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)