S25P (p.Ser25Pro) variant of CHD2 (O14647)
S25P (p.Ser25Pro) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- gnomAD 15-92924331-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.30
- MetaLR 0.71
- MetaSVM 0.39
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available