C40G (p.Cys40Gly) variant of CSRP3 (P50461)
C40G (p.Cys40Gly) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
C40G (p.Cys40Gly) variant details
- p.Cys40Gly
- rs920763927
- ClinGen CA218633676
- ClinVar RCV003324470
- Ensembl rs920763927
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available