L38Q (p.Leu38Gln) variant of RNF207 (RING finger protein 207)
L38Q (p.Leu38Gln) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L38Q (p.Leu38Gln) variant details
- p.Leu38Gln
- gnomAD 1-6206648-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available