A12S (p.Ala12Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
A12S (p.Ala12Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- TOPMed rs1160540030
- gnomAD rs1160540030
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.14
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available