L103V (p.Leu103Val) variant of PYGM (P11217)
L103V (p.Leu103Val) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L103V (p.Leu103Val) variant details
- p.Leu103Val
- rs2135840833
- ClinGen CA381111163
- ClinVar RCV001579117
- Ensembl rs2135840833
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 20.10
- PolyPhen-2 0.07
- SIFT 0.09
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)