S32N (p.Ser32Asn) variant of COL4A4 (Collagen alpha-4(IV) chain)
S32N (p.Ser32Asn) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- rs2149744390
- gnomAD 2-227010404-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0941
- CADD 1.82
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available