I5T (p.Ile5Thr) variant of RNF207 (RING finger protein 207)
I5T (p.Ile5Thr) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- gnomAD 1-6206549-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 26.80
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available