S28S (p.Ser28Ser) variant of KIT (P10721)
S28S (p.Ser28Ser) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs758868843
- gnomAD 4-54695528-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 12.80
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available