M124V (p.Met124Val) variant of CARD9 (Q9H257)
M124V (p.Met124Val) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Predisposition to invasive fungal disease due to CARD9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1.
M124V (p.Met124Val) variant details
- p.Met124Val
- rs2131444353
- ClinGen CA375545613
- ClinVar RCV001863722
- Ensembl rs2131444353
- Uncertain significance
- Predisposition to invasive fungal disease due to CARD9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.98
- PolyPhen-2 0.04
- SIFT 0.18
- EVE 0.17
- ClinVar: Uncertain significance (Predisposition to invasive fungal disease due to CARD9 deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance