F31S (p.Phe31Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
F31S (p.Phe31Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F31S (p.Phe31Ser) variant details
- p.Phe31Ser
- ExAC rs754455472
- gnomAD rs754455472
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.58
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available