L36Q (p.Leu36Gln) variant of RNF215 (RING finger protein 215)
L36Q (p.Leu36Gln) in RNF215 (RING finger protein 215) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
L36Q (p.Leu36Gln) variant details
- p.Leu36Gln
- rs2518375503
- ClinGen CA411202974
- ClinVar RCV004094704
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- ESM-1b 0.59
- AlphaMissense 0.17
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available