L27V (p.Leu27Val) variant of OPTN (Optineurin)
L27V (p.Leu27Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 10-13109201-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.20
- CADD 10.80
- PolyPhen-2 0.07
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available