S13L (p.Ser13Leu) variant of ITGA6 (Integrin alpha-6)
S13L (p.Ser13Leu) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S13L (p.Ser13Leu) variant details
- p.Ser13Leu
- cosmic curated COSV10803
- 1000Genomes rs564206622
- ExAC rs564206622
- TOPMed rs564206622
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.66
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available