M1K (p.Met1Lys) variant of NR2E3 (Q9Y5X4)
M1K (p.Met1Lys) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs975791531
- ClinGen CA393031309
- ClinVar RCV001896166
- Uncertain significance
- not provided
- Missense
- MetaLR 0.10
- MetaSVM -0.96
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance