P78T (p.Pro78Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
P78T (p.Pro78Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- ExAC rs762682812
- TOPMed rs762682812
- gnomAD rs762682812
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.25
- CADD 14.80
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available