P72S (p.Pro72Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
P72S (p.Pro72Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- gnomAD rs1439965299
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.37
- CADD 22.20
- PolyPhen-2 0.74
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available