D121E (p.Asp121Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
D121E (p.Asp121Glu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
D121E (p.Asp121Glu) variant details
- p.Asp121Glu
- rs2065982277
- ClinGen CA415176490
- ClinVar RCV001810713
- Ensembl rs2065982277
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.69
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available