I170M (p.Ile170Met) variant of RAD21 (O60216)
I170M (p.Ile170Met) in RAD21 (O60216) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
I170M (p.Ile170Met) variant details
- p.Ile170Met
- gnomAD rs1308066942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.16
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)