S2L (p.Ser2Leu) variant of GALT (P07902)
S2L (p.Ser2Leu) 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 and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- ExAC rs772918156
- TOPMed rs772918156
- gnomAD rs772918156
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.41
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available