L667R (p.Leu667Arg) variant of KIT (P10721)
L667R (p.Leu667Arg) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Piebaldism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
L667R (p.Leu667Arg) variant details
- p.Leu667Arg
- rs1560419312
- ClinGen CA356909166
- ClinVar RCV000522612
- Ensembl rs1560419312
- Likely pathogenic
- Piebaldism
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.99
- MetaLR 0.76
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Piebaldism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available