T10A (p.Thr10Ala) variant of IFNAR1 (Interferon alpha/beta receptor 1)
T10A (p.Thr10Ala) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- rs751675124
- ClinGen CA10006351
- ClinVar RCV001920296
- ClinVar RCV004043304
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.07
- MetaLR 0.20
- MetaSVM -0.90
- CADD 5.22
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available