Y102C (p.Tyr102Cys) variant of TNFRSF13B (O14836)
Y102C (p.Tyr102Cys) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
Y102C (p.Tyr102Cys) variant details
- p.Tyr102Cys
- rs2508206711
- ClinGen CA2695201252
- ClinVar RCV003391570
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)