P24L (p.Pro24Leu) variant of RP2 (Protein XRP2)
P24L (p.Pro24Leu) 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.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs2147074680
- ClinGen CA413038295
- ClinVar RCV001974036
- Ensembl rs2147074680
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.37
- CADD 20.60
- PolyPhen-2 0.32
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available