T75R (p.Thr75Arg) variant of RINL (Q6ZS11)
T75R (p.Thr75Arg) in RINL (Q6ZS11) 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 0.11 / 1. The record also includes population frequency data.
T75R (p.Thr75Arg) variant details
- p.Thr75Arg
- gnomAD rs1349190247
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 6.93
- PolyPhen-2 0.20
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available