P66S (p.Pro66Ser) variant of GALT (P07902)
P66S (p.Pro66Ser) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P66S (p.Pro66Ser) variant details
- p.Pro66Ser
- TOPMed rs1317678108
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.92
- AlphaMissense 0.19
- MetaLR 0.96
- MetaSVM 1.11
- CADD 26.20
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available