Q30P (p.Gln30Pro) variant of GALT (P07902)
Q30P (p.Gln30Pro) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Q30P (p.Gln30Pro) variant details
- p.Gln30Pro
- TOPMed rs1288345141
- gnomAD rs1288345141
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.67
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.97
- CADD 24.40
- PolyPhen-2 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available