T141A (p.Thr141Ala) variant of CHM (P24386)
T141A (p.Thr141Ala) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T141A (p.Thr141Ala) variant details
- p.Thr141Ala
- rs766636159
- ClinGen CA10465580
- ClinVar RCV003067275
- ExAC rs766636159
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -1.09
- CADD 1.90
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available