S62R (p.Ser62Arg) variant of ANKRD1 (Q15327)
S62R (p.Ser62Arg) in ANKRD1 (Q15327) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- ExAC rs766962252
- TOPMed rs766962252
- gnomAD rs766962252
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0621
- REVEL 0.06
- CADD 0.39
- PolyPhen-2 0.00
- SIFT 0.52
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available