Q53H (p.Gln53His) variant of OPTN (Optineurin)
Q53H (p.Gln53His) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q53H (p.Gln53His) variant details
- p.Gln53His
- gnomAD 10-13109281-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.36
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available