R17C (p.Arg17Cys) variant of PYGM (P11217)
R17C (p.Arg17Cys) in PYGM (P11217) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- rs774650561
- ExAC rs774650561
- TOPMed rs774650561
- gnomAD rs774650561
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available