M134I (p.Met134Ile) variant of CEP290 (Centrosomal protein of 290 kDa)
M134I (p.Met134Ile) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. 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.
M134I (p.Met134Ile) variant details
- p.Met134Ile
- cosmic curated COSV10516
- gnomAD rs1205221239
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.14
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available