M14V (p.Met14Val) variant of CTNNB1 (Catenin beta-1)
M14V (p.Met14Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M14V (p.Met14Val) variant details
- p.Met14Val
- rs752642845
- ClinGen CA2330855
- cosmic curated COSV62723
- ClinVar RCV000513017
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available