E33Q (p.Glu33Gln) variant of RNF207 (RING finger protein 207)
E33Q (p.Glu33Gln) in RNF207 (RING finger protein 207) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- NCI-TCGA Cosmic COSV6500
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.53
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available