S13F (p.Ser13Phe) variant of CHD2 (O14647)
S13F (p.Ser13Phe) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- rs2052591709
- gnomAD 15-92904945-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 7.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available