H31Y (p.His31Tyr) variant of CARD11 (Q9BXL7)
H31Y (p.His31Tyr) in CARD11 (Q9BXL7) 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 0.33 / 1. The record also includes structural context.
H31Y (p.His31Tyr) variant details
- p.His31Tyr
- rs1562496455
- ClinGen CA366647960
- ClinVar RCV000762445
- Ensembl rs1562496455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.88
- MetaLR 0.13
- MetaSVM -1.01
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available