M1V (p.Met1Val) variant of KIF1A (Kinesin-like protein KIF1A)
M1V (p.Met1Val) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1559538947
- ClinGen CA351316207
- ClinVar RCV000712144
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- MetaLR 0.51
- MetaSVM 0.12
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance