S36L (p.Ser36Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
S36L (p.Ser36Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S36L (p.Ser36Leu) variant details
- p.Ser36Leu
- ExAC rs759512115
- gnomAD rs759512115
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.23
- AlphaMissense 0.11
- MetaLR 0.67
- MetaSVM 0.13
- CADD 21.40
- PolyPhen-2 0.01
- Most common in the South Asian population (allele frequency 5.6e-05)
- Structural context available