K81R (p.Lys81Arg) variant of PYGM (P11217)
K81R (p.Lys81Arg) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K81R (p.Lys81Arg) variant details
- p.Lys81Arg
- rs771895781
- ClinGen CA6080338
- cosmic curated COSV51214
- ClinVar RCV003130370
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 32.00
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.001)
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)