V60L (p.Val60Leu) variant of RNF215 (RING finger protein 215)
V60L (p.Val60Leu) 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 0.29 / 1. The record also includes population frequency data and structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- ExAC rs752489171
- TOPMed rs752489171
- gnomAD rs752489171
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available