P27P (p.Pro27Pro) variant of KIT (P10721)
P27P (p.Pro27Pro) in KIT (P10721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P27P (p.Pro27Pro) variant details
- p.Pro27Pro
- gnomAD 4-54695525-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 12.20
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available