P67A (p.Pro67Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
P67A (p.Pro67Ala) in COL4A4 (Collagen alpha-4(IV) chain) 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 0.74 / 1. The record also includes population frequency data and structural context.
P67A (p.Pro67Ala) variant details
- p.Pro67Ala
- ExAC rs755183371
- TOPMed rs755183371
- gnomAD rs755183371
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.71
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available