A71T (p.Ala71Thr) variant of MECP2 (Methyl-CpG-binding protein 2)
A71T (p.Ala71Thr) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- Ensembl rs2065987061
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.46
- MetaLR 0.84
- MetaSVM 0.63
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.697