P44L (p.Pro44Leu) variant of DYSF (Dysferlin)
P44L (p.Pro44Leu) 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 published literature and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs773503180
- ClinGen CA347216082
- NCI-TCGA Cosmic COSV5044
- cosmic curated COSV50448
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)