S21S (p.Ser21Ser) variant of CHD2 (O14647)
S21S (p.Ser21Ser) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S21S (p.Ser21Ser) variant details
- p.Ser21Ser
- gnomAD 15-92924321-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 16.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available