T51P (p.Thr51Pro) variant of ZRSR2 (Q15696)
T51P (p.Thr51Pro) in ZRSR2 (Q15696) 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 0.14 / 1. The record also includes population frequency data and structural context.
T51P (p.Thr51Pro) variant details
- p.Thr51Pro
- ExAC rs770461833
- TOPMed rs770461833
- gnomAD rs770461833
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.08
- AlphaMissense 0.07
- MetaLR 0.15
- MetaSVM -0.88
- CADD 5.16
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available