M43T (p.Met43Thr) variant of CD79A (P11912)
M43T (p.Met43Thr) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
M43T (p.Met43Thr) variant details
- p.Met43Thr
- ExAC rs782421590
- TOPMed rs782421590
- gnomAD rs782421590
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- CADD 2.56
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available