L116V (p.Leu116Val) variant of PYGM (P11217)
L116V (p.Leu116Val) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L116V (p.Leu116Val) variant details
- p.Leu116Val
- rs759361512
- ClinGen CA6080277
- ClinVar RCV001277994
- ExAC rs759361512
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance (in GSD5)
- UniProt: Uncertain significance (in GSD5)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)