K69T (p.Lys69Thr) variant of REEP1 (Q9H902)
K69T (p.Lys69Thr) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronopathy, distal hereditary motor, type 5B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
K69T (p.Lys69Thr) variant details
- p.Lys69Thr
- rs1676462791
- ClinGen CA347717565
- ClinVar RCV001331266
- Ensembl rs1676462791
- Uncertain significance
- Neuronopathy, distal hereditary motor, type 5B
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (Neuronopathy, distal hereditary motor, type 5B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available