P13A (p.Pro13Ala) variant of RNF215 (RING finger protein 215)
P13A (p.Pro13Ala) in RNF215 (RING finger protein 215) is a missense change. Clinical records from ClinVar 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.
P13A (p.Pro13Ala) variant details
- p.Pro13Ala
- 1000Genomes rs537401342
- TOPMed rs537401342
- gnomAD rs537401342
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.70
- PolyPhen-2 0.81
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available