T52P (p.Thr52Pro) variant of TMEM43 (Transmembrane protein 43)
T52P (p.Thr52Pro) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T52P (p.Thr52Pro) variant details
- p.Thr52Pro
- Ensembl rs1559360066
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.30
- CADD 24.00
- PolyPhen-2 0.56
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available