H29Q (p.His29Gln) variant of OPTN (Optineurin)
H29Q (p.His29Gln) in OPTN (Optineurin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H29Q (p.His29Gln) variant details
- p.His29Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.16
- CADD 14.70
- PolyPhen-2 0.25
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available