G135A (p.Gly135Ala) variant of PYGM (P11217)
G135A (p.Gly135Ala) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G135A (p.Gly135Ala) variant details
- p.Gly135Ala
- gnomAD rs2058409484
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available