L9Q (p.Leu9Gln) variant of RNF207 (RING finger protein 207)
L9Q (p.Leu9Gln) 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 0.18 / 1. The record also includes population frequency data and structural context.
L9Q (p.Leu9Gln) variant details
- p.Leu9Gln
- rs369840055
- ESP rs369840055
- ExAC rs369840055
- TOPMed rs369840055
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.53
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available