H52Q (p.His52Gln) variant of OPTN (Optineurin)
H52Q (p.His52Gln) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H52Q (p.His52Gln) variant details
- p.His52Gln
- gnomAD 10-13109278-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.41
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available