L40V (p.Leu40Val) variant of OPTN (Optineurin)
L40V (p.Leu40Val) in OPTN (Optineurin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- gnomAD 10-13109240-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 0.90
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available