K6T (p.Lys6Thr) variant of ZRSR2 (Q15696)
K6T (p.Lys6Thr) in ZRSR2 (Q15696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
K6T (p.Lys6Thr) variant details
- p.Lys6Thr
- TOPMed rs1198313061
- gnomAD rs1198313061
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -1.03
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available