S53T (p.Ser53Thr) variant of CHD7 (Q9P2D1)
S53T (p.Ser53Thr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- TOPMed rs1225403740
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.04
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available