S30S (p.Ser30Ser) variant of KIT (P10721)
S30S (p.Ser30Ser) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- gnomAD 4-54695534-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 11.40
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available