R50S (p.Arg50Ser) variant of SETD5 (Q9C0A6)
R50S (p.Arg50Ser) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- rs763496394
- ClinGen CA2238839
- ClinVar RCV002043798
- ExAC rs763496394
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.21
- MetaLR 0.30
- MetaSVM -0.76
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available