P70Q (p.Pro70Gln) variant of COL4A4 (Collagen alpha-4(IV) chain)
P70Q (p.Pro70Gln) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. 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.
P70Q (p.Pro70Gln) variant details
- p.Pro70Gln
- ExAC rs751497878
- gnomAD rs751497878
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.30
- CADD 17.60
- PolyPhen-2 0.33
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available