S25P (p.Ser25Pro) variant of KIT (P10721)
S25P (p.Ser25Pro) in KIT (P10721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- gnomAD 4-54695517-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.33
- CADD 23.40
- PolyPhen-2 0.64
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available