S23A (p.Ser23Ala) variant of SETD5 (Q9C0A6)
S23A (p.Ser23Ala) 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 0.78 / 1. The record also includes structural context.
S23A (p.Ser23Ala) variant details
- p.Ser23Ala
- rs2125044858
- ClinGen CA351679283
- ClinVar RCV002274633
- Ensembl rs2125044858
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.47
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available