T42S (p.Thr42Ser) variant of SETD5 (Q9C0A6)
T42S (p.Thr42Ser) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T42S (p.Thr42Ser) variant details
- p.Thr42Ser
- ExAC rs776998400
- gnomAD rs776998400
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.34
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available