S31N (p.Ser31Asn) variant of SETD5 (Q9C0A6)
S31N (p.Ser31Asn) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S31N (p.Ser31Asn) variant details
- p.Ser31Asn
- ExAC rs749033935
- gnomAD rs749033935
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.52
- MetaLR 0.93
- MetaSVM 1.04
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available