S35P (p.Ser35Pro) variant of KIT (P10721)
S35P (p.Ser35Pro) in KIT (P10721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S35P (p.Ser35Pro) variant details
- p.Ser35Pro
- gnomAD 4-54695547-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.17
- CADD 23.60
- PolyPhen-2 0.70
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available