M9V (p.Met9Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
M9V (p.Met9Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
M9V (p.Met9Val) variant details
- p.Met9Val
- ExAC rs775856971
- TOPMed rs775856971
- gnomAD rs775856971
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.19
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available