H3R (p.His3Arg) variant of OPTN (Optineurin)
H3R (p.His3Arg) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
H3R (p.His3Arg) variant details
- p.His3Arg
- gnomAD 10-13109130-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.21
- CADD 21.50
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Literature evidence available