D136N (p.Asp136Asn) variant of KIF1A (Kinesin-like protein KIF1A)
D136N (p.Asp136Asn) 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 Hereditary spastic paraplegia; Inborn genetic diseases; Hereditary spastic parap. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
D136N (p.Asp136Asn) variant details
- p.Asp136Asn
- rs374178011
- ClinGen CA2208796
- cosmic curated COSV57498
- ClinVar RCV001585068
- Uncertain significance
- Hereditary spastic paraplegia; Inborn genetic diseases; Hereditary spastic parap
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.18
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Hereditary spastic paraplegia; Inborn genetic diseases; Heredita)
- EBI: Variant of uncertain significance (in dbSNP:rs374178011)
- UniProt: Uncertain significance (in dbSNP:rs374178011)
- 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)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)