H74R (p.His74Arg) variant of PYGM (P11217)
H74R (p.His74Arg) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H74R (p.His74Arg) variant details
- p.His74Arg
- TOPMed rs1450912823
- gnomAD rs1450912823
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available