S42R (p.Ser42Arg) variant of ITGA6 (Integrin alpha-6)
S42R (p.Ser42Arg) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S42R (p.Ser42Arg) variant details
- p.Ser42Arg
- TOPMed rs1194508063
- gnomAD rs1194508063
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available