D30G (p.Asp30Gly) variant of RP2 (Protein XRP2)
D30G (p.Asp30Gly) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- TOPMed rs1386345335
- gnomAD rs1386345335
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.60
- CADD 25.50
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available