I20T (p.Ile20Thr) variant of RNF207 (RING finger protein 207)
I20T (p.Ile20Thr) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I20T (p.Ile20Thr) variant details
- p.Ile20Thr
- TOPMed rs1667911742
- gnomAD rs1667911742
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.05
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available