S42N (p.Ser42Asn) variant of ITGA6 (Integrin alpha-6)
S42N (p.Ser42Asn) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- gnomAD 2-172427913-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available