R64P (p.Arg64Pro) variant of COL4A4 (Collagen alpha-4(IV) chain)
R64P (p.Arg64Pro) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R64P (p.Arg64Pro) variant details
- p.Arg64Pro
- ESP rs371326070
- ExAC rs371326070
- TOPMed rs371326070
- gnomAD rs371326070
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.59
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available