P16Q (p.Pro16Gln) variant of RNF215 (RING finger protein 215)
P16Q (p.Pro16Gln) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P16Q (p.Pro16Gln) variant details
- p.Pro16Gln
- TOPMed rs1051895665
- gnomAD rs1051895665
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available