Q38H (p.Gln38His) variant of COL4A3 (Collagen alpha-3(IV) chain)
Q38H (p.Gln38His) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q38H (p.Gln38His) variant details
- p.Gln38His
- TOPMed rs772640950
- gnomAD rs772640950
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.27
- CADD 22.50
- PolyPhen-2 0.86
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available