M1742V (p.Met1742Val) variant of CREBBP (CREB-binding protein)
M1742V (p.Met1742Val) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rare genetic intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
M1742V (p.Met1742Val) variant details
- p.Met1742Val
- rs2151312423
- ClinGen CA394557611
- ClinVar RCV001257011
- Likely pathogenic
- Rare genetic intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.88
- MetaLR 0.81
- MetaSVM 0.59
- PolyPhen-2 0.70
- SIFT 0.14
- EVE 0.74
- ClinVar: Likely pathogenic (Rare genetic intellectual disability)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available