K13M (p.Lys13Met) variant of RP2 (Protein XRP2)
K13M (p.Lys13Met) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. 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.
K13M (p.Lys13Met) variant details
- p.Lys13Met
- rs1238437293
- ClinGen CA413038219
- ClinVar RCV001075679
- TOPMed rs1238437293
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- CADD 17.60
- PolyPhen-2 0.28
- SIFT 0.08
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available