S217F (p.Ser217Phe) variant of KIF1A (Kinesin-like protein KIF1A)
S217F (p.Ser217Phe) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability, autosomal dominant 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1.
S217F (p.Ser217Phe) variant details
- p.Ser217Phe
- rs876661202
- ClinGen CA351304762
- ClinVar RCV001329211
- ClinVar RCV005411720
- Conflicting interpretations
- not provided; Intellectual disability, autosomal dominant 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability, autosomal dominant 9)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)