P2L (p.Pro2Leu) variant of SGCD (Delta-sarcoglycan)
P2L (p.Pro2Leu) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs1554094928
- ClinGen CA362007503
- ClinVar RCV000593997
- Ensembl rs1554094928
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.50
- MetaSVM -0.13
- PolyPhen-2 0.95
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available