G6V (p.Gly6Val) variant of KIT (P10721)
G6V (p.Gly6Val) in KIT (P10721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 4-54658031-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available