M65V (p.Met65Val) variant of CARD11 (Q9BXL7)
M65V (p.Met65Val) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
M65V (p.Met65Val) variant details
- p.Met65Val
- rs1554276629
- ClinGen CA366647723
- ClinVar RCV000651141
- Ensembl rs1554276629
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.01
- SIFT 0.10
- EVE 0.19
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available