K10R (p.Lys10Arg) variant of SPAST (Spastin)
K10R (p.Lys10Arg) in SPAST (Spastin) 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 0.47 / 1. The record also includes population frequency data and structural context.
K10R (p.Lys10Arg) variant details
- p.Lys10Arg
- rs2148685090
- ClinGen CA346601224
- ClinVar RCV001762930
- Ensembl rs2148685090
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.37
- CADD 24.30
- PolyPhen-2 0.90
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available