V205M (p.Val205Met) variant of KIF1A (Kinesin-like protein KIF1A)
V205M (p.Val205Met) in KIF1A (Kinesin-like protein KIF1A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and published literature.
V205M (p.Val205Met) variant details
- p.Val205Met
- rs371039513
- UniProt VAR 075479
- ESP rs371039513
- ExAC rs371039513
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.74
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)