H37D (p.His37Asp) variant of PYGM (P11217)
H37D (p.His37Asp) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
H37D (p.His37Asp) variant details
- p.His37Asp
- gnomAD rs2058422170
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available