P31L (p.Pro31Leu) variant of KIT (P10721)
P31L (p.Pro31Leu) in KIT (P10721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 4-54695536-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.32
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available