H52Y (p.His52Tyr) variant of OPTN (Optineurin)
H52Y (p.His52Tyr) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
H52Y (p.His52Tyr) variant details
- p.His52Tyr
- rs766091193
- ClinGen CA5410521
- ClinVar RCV003993377
- ExAC rs766091193
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.34
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available