T53A (p.Thr53Ala) variant of REEP1 (Q9H902)
T53A (p.Thr53Ala) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- gnomAD rs1157781388
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.33
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available