A21G (p.Ala21Gly) variant of SETD5 (Q9C0A6)
A21G (p.Ala21Gly) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- ExAC rs754394532
- gnomAD rs754394532
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.45
- MetaLR 0.92
- MetaSVM 1.00
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available