P69T (p.Pro69Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
P69T (p.Pro69Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P69T (p.Pro69Thr) variant details
- p.Pro69Thr
- 1000Genomes rs199748684
- ESP rs199748684
- ExAC rs199748684
- TOPMed rs199748684
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.36
- CADD 22.00
- PolyPhen-2 0.24
- SIFT 0.02
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available