I53T (p.Ile53Thr) variant of ZRSR2 (Q15696)
I53T (p.Ile53Thr) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- TOPMed rs1332738431
- Missense
- Variant Prioritization Score for Impact Estimate 0.0925
- REVEL 0.03
- MetaLR 0.34
- MetaSVM -0.69
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available