S8T (p.Ser8Thr) variant of CHD7 (Q9P2D1)
S8T (p.Ser8Thr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- gnomAD 8-60741455-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.59
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.893
- Literature evidence available