Q6P (p.Gln6Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
Q6P (p.Gln6Pro) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q6P (p.Gln6Pro) variant details
- p.Gln6Pro
- gnomAD rs1296702474
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.59
- MetaLR 0.54
- MetaSVM -0.03
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available