S15N (p.Ser15Asn) variant of GALT (P07902)
S15N (p.Ser15Asn) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S15N (p.Ser15Asn) variant details
- p.Ser15Asn
- rs748732979
- gnomAD 9-34647258-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 23.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available