K33N (p.Lys33Asn) variant of REEP1 (Q9H902)
K33N (p.Lys33Asn) 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 0.56 / 1. The record also includes structural context.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- rs2104394748
- ClinGen CA347722453
- ClinVar RCV001754644
- Ensembl rs2104394748
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.25
- PolyPhen-2 0.42
- SIFT 0.00
- EVE 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available