R34H (p.Arg34His) variant of RNF207 (RING finger protein 207)
R34H (p.Arg34His) in RNF207 (RING finger protein 207) is a missense change. Clinical records from ClinVar, EBI, 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 0.20 / 1. The record also includes population frequency data and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs140205685
- ClinGen CA557648
- ClinVar RCV004093754
- ESP rs140205685
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.13
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available