G42S (p.Gly42Ser) variant of KIT (P10721)
G42S (p.Gly42Ser) in KIT (P10721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- rs1161473997
- gnomAD 4-54695552-A-ACCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available