H171P (p.His171Pro) variant of KIF1A (Kinesin-like protein KIF1A)
H171P (p.His171Pro) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature.
H171P (p.His171Pro) variant details
- p.His171Pro
- rs876661180
- ClinGen CA10577245
- ClinVar RCV000223418
- UniProt VAR 086856
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.97
- MetaLR 0.84
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)