K7Q (p.Lys7Gln) variant of RP2 (Protein XRP2)
K7Q (p.Lys7Gln) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K7Q (p.Lys7Gln) variant details
- p.Lys7Gln
- rs1924520196
- ClinGen CA413038172
- ClinVar RCV001074934
- ClinVar RCV001862583
- Uncertain significance
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.45
- CADD 26.40
- PolyPhen-2 0.80
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available