A46V (p.Ala46Val) variant of RNF207 (RING finger protein 207)
A46V (p.Ala46Val) 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 0.63 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs1212873448
- TOPMed rs1212873448
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.66
- CADD 24.40
- PolyPhen-2 0.57
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available