L32V (p.Leu32Val) variant of OPTN (Optineurin)
L32V (p.Leu32Val) in OPTN (Optineurin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs779662670
- NCI-TCGA Cosmic COSV9953
- cosmic curated COSV99537
- ExAC rs779662670
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.11
- MetaLR 0.64
- MetaSVM 0.46
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.35
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available