T87K (p.Thr87Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
T87K (p.Thr87Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T87K (p.Thr87Lys) variant details
- p.Thr87Lys
- ExAC rs778591411
- TOPMed rs778591411
- gnomAD rs778591411
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.06
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available