S21T (p.Ser21Thr) variant of CHD2 (O14647)
S21T (p.Ser21Thr) in CHD2 (O14647) 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 0.56 / 1. The record also includes structural context.
S21T (p.Ser21Thr) variant details
- p.Ser21Thr
- rs1596359879
- ClinGen CA393892463
- cosmic curated COSV59121
- ClinVar RCV000995426
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available