A130S (p.Ala130Ser) variant of PYGM (P11217)
A130S (p.Ala130Ser) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A130S (p.Ala130Ser) variant details
- p.Ala130Ser
- gnomAD rs1385683915
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available