N51D (p.Asn51Asp) variant of OPTN (Optineurin)
N51D (p.Asn51Asp) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N51D (p.Asn51Asp) variant details
- p.Asn51Asp
- gnomAD 10-13109273-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.57
- CADD 27.60
- 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