L36V (p.Leu36Val) variant of RNF215 (RING finger protein 215)
L36V (p.Leu36Val) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- TOPMed rs1357638387
- gnomAD rs1357638387
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 25.10
- PolyPhen-2 0.90
- SIFT 0.07
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available