A43T (p.Ala43Thr) variant of CSRP3 (P50461)
A43T (p.Ala43Thr) in CSRP3 (P50461) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- cosmic curated COSV56388
- TOPMed rs1174058654
- gnomAD rs1174058654
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.50
- AlphaMissense 0.24
- MetaLR 0.40
- MetaSVM -0.42
- CADD 19.60
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available