N27K (p.Asn27Lys) variant of GALT (P07902)
N27K (p.Asn27Lys) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N27K (p.Asn27Lys) variant details
- p.Asn27Lys
- ExAC rs771930483
- gnomAD rs771930483
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.32
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available