L6V (p.Leu6Val) variant of OPTN (Optineurin)
L6V (p.Leu6Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD 10-13109138-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.17
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available