A81T (p.Ala81Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
A81T (p.Ala81Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A81T (p.Ala81Thr) variant details
- p.Ala81Thr
- TOPMed rs1371498491
- gnomAD rs1371498491
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.09
- CADD 4.09
- PolyPhen-2 0.07
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available