C53G (p.Cys53Gly) variant of SETD5 (Q9C0A6)
C53G (p.Cys53Gly) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C53G (p.Cys53Gly) variant details
- p.Cys53Gly
- gnomAD 3-9433930-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.30
- MetaLR 0.50
- MetaSVM -0.06
- CADD 22.30
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available