P3T (p.Pro3Thr) variant of TMC1 (Q8TDI8)
P3T (p.Pro3Thr) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- rs569626109
- ClinGen CA184431
- cosmic curated COSV10813
- ClinVar RCV000156234
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available