S37L (p.Ser37Leu) variant of CHD2 (O14647)
S37L (p.Ser37Leu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S37L (p.Ser37Leu) variant details
- p.Ser37Leu
- cosmic curated COSV59122
- gnomAD rs1255717695
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.44
- MetaLR 0.76
- MetaSVM 0.68
- CADD 28.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available