H74Y (p.His74Tyr) variant of PYGM (P11217)
H74Y (p.His74Tyr) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H74Y (p.His74Tyr) variant details
- p.His74Tyr
- TOPMed rs1248467384
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available