P70S (p.Pro70Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
P70S (p.Pro70Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- Ensembl rs776356451
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.65
- MetaLR 0.88
- MetaSVM 0.75
- CADD 23.10
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available