R20S (p.Arg20Ser) variant of CD8A (P01732)
R20S (p.Arg20Ser) in CD8A (P01732) 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 0.18 / 1. The record also includes population frequency data.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- ExAC rs752636744
- gnomAD rs752636744
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.95
- CADD 7.43
- PolyPhen-2 0.00
- SIFT 0.73
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)