T49I (p.Thr49Ile) variant of OPTN (Optineurin)
T49I (p.Thr49Ile) in OPTN (Optineurin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- NCI-TCGA Cosmic COSV9953
- cosmic curated COSV99537
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.21
- CADD 6.09
- PolyPhen-2 0.00
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available