H58R (p.His58Arg) variant of PYGM (P11217)
H58R (p.His58Arg) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H58R (p.His58Arg) variant details
- p.His58Arg
- cosmic curated COSV51214
- gnomAD rs1416006850
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available