I64T (p.Ile64Thr) variant of RP2 (Protein XRP2)
I64T (p.Ile64Thr) 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 0.79 / 1. The record also includes population frequency data and structural context.
I64T (p.Ile64Thr) variant details
- p.Ile64Thr
- rs782712704
- ClinGen CA10394190
- ClinVar RCV001340990
- ExAC rs782712704
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available