P191T (p.Pro191Thr) variant of DCX (O43602)
P191T (p.Pro191Thr) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
P191T (p.Pro191Thr) variant details
- p.Pro191Thr
- rs587783565
- ClinGen CA172004
- ClinVar RCV000145862
- gnomAD rs587783565
- Likely pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM -0.09
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Ectopic tissue)
- EBI: Likely pathogenic (in SBHX)
- UniProt: Likely pathogenic (in SBHX)
- Structural context available