S2W (p.Ser2Trp) variant of RNF207 (RING finger protein 207)
S2W (p.Ser2Trp) 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 0.48 / 1. The record also includes population frequency data and structural context.
S2W (p.Ser2Trp) variant details
- p.Ser2Trp
- rs927893945
- ClinGen CA17165211
- ClinVar RCV004354852
- TOPMed rs927893945
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.27
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available