K25T (p.Lys25Thr) variant of RP2 (Protein XRP2)
K25T (p.Lys25Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K25T (p.Lys25Thr) variant details
- p.Lys25Thr
- rs1556313523
- ClinGen CA413038299
- ClinVar RCV003679696
- gnomAD rs1556313523
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.48
- CADD 25.20
- PolyPhen-2 0.56
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available