T59A (p.Thr59Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
T59A (p.Thr59Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T59A (p.Thr59Ala) variant details
- p.Thr59Ala
- rs376641474
- ClinGen CA6536081
- ClinVar RCV001772731
- ESP rs376641474
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.06
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available