S15C (p.Ser15Cys) variant of SETD5 (Q9C0A6)
S15C (p.Ser15Cys) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- TOPMed rs1452389620
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.43
- MetaLR 0.89
- MetaSVM 0.92
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available