A17T (p.Ala17Thr) variant of RNF207 (RING finger protein 207)
A17T (p.Ala17Thr) in RNF207 (RING finger protein 207) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- 1000Genomes rs142728754
- ESP rs142728754
- ExAC rs142728754
- TOPMed rs142728754
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0885
- REVEL 0.07
- CADD 6.58
- PolyPhen-2 0.04
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0097)
- Structural context available