H40Q (p.His40Gln) variant of KIT (P10721)
H40Q (p.His40Gln) in KIT (P10721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H40Q (p.His40Gln) variant details
- p.His40Gln
- gnomAD 4-54695552-ACCAT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available