M1T (p.Met1Thr) variant of CSRP3 (P50461)
M1T (p.Met1Thr) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2133516584
- ClinGen CA379888706
- ClinVar RCV001780888
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- MetaLR 0.45
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.98
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available