R3P (p.Arg3Pro) variant of GALT (P07902)
R3P (p.Arg3Pro) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- gnomAD 9-34646712-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.39
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.94
- CADD 13.60
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available