I336V (p.Ile336Val) variant of KIF1A (Kinesin-like protein KIF1A)
I336V (p.Ile336Val) in KIF1A (Kinesin-like protein KIF1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
I336V (p.Ile336Val) variant details
- p.Ile336Val
- rs375423065
- UniProt VAR 075489
- ESP rs375423065
- TOPMed rs375423065
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.05
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)