S31R (p.Ser31Arg) variant of SETD5 (Q9C0A6)
S31R (p.Ser31Arg) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S31R (p.Ser31Arg) variant details
- p.Ser31Arg
- ExAC rs757219269
- gnomAD rs757219269
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- MetaLR 0.91
- MetaSVM 0.99
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available