Q9P (p.Gln9Pro) variant of GALT (P07902)
Q9P (p.Gln9Pro) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q9P (p.Gln9Pro) variant details
- p.Gln9Pro
- gnomAD 9-34646730-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.41
- AlphaMissense 0.07
- MetaLR 0.91
- MetaSVM 0.83
- CADD 17.20
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available