C102S (p.Cys102Ser) variant of TNFRSF1A (P19438)
C102S (p.Cys102Ser) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
C102S (p.Cys102Ser) variant details
- p.Cys102Ser
- rs1555108112
- ClinGen CA383550414
- ClinVar RCV000497456
- Ensembl rs1555108112
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available