A46T (p.Ala46Thr) variant of REEP1 (Q9H902)
A46T (p.Ala46Thr) in REEP1 (Q9H902) 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 0.86 / 1. The record also includes structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs1558898635
- ClinGen CA347720048
- ClinVar RCV000713452
- Ensembl rs1558898635
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available