P12Q (p.Pro12Gln) variant of RNF215 (RING finger protein 215)
P12Q (p.Pro12Gln) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- TOPMed rs1316623537
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.24
- ESM-1b 0.53
- AlphaMissense 0.16
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available