M1V (p.Met1Val) variant of CTNNB1 (Catenin beta-1)
M1V (p.Met1Val) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CTNNB1-related syndromic intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs956534023
- ClinGen CA74088417
- ClinVar RCV001563600
- Uncertain significance
- CTNNB1-related syndromic intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- MetaLR 0.10
- MetaSVM -0.93
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.97
- ClinVar: Uncertain significance (CTNNB1-related syndromic intellectual disability)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available