T16M (p.Thr16Met) variant of CHM (P24386)
T16M (p.Thr16Met) 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 0.52 / 1. The record also includes population frequency data and structural context.
T16M (p.Thr16Met) variant details
- p.Thr16Met
- rs1021746178
- ClinGen CA332667705
- NCI-TCGA Cosmic COSV6256
- ClinVar RCV001907353
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.65
- MetaLR 0.45
- MetaSVM -0.07
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available