T847P (p.Thr847Pro) variant of KIT (P10721)
T847P (p.Thr847Pro) in KIT (P10721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 population frequency data, published literature, and structural context.
T847P (p.Thr847Pro) variant details
- p.Thr847Pro
- rs121913687
- ClinGen CA123535
- ClinVar RCV000014875
- UniProt VAR 033137
- Pathogenic
- Piebaldism
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.93
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Piebaldism)
- EBI: Pathogenic (in PBT)
- UniProt: Pathogenic (in PBT)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: A novel KIT gene missense mutation in a Japanese family with piebaldism. (PMID 9699740)
- Cited in: Three novel mutations of the proto-oncogene KIT cause human piebaldism. (PMID 11074500)