S42N (p.Ser42Asn) variant of DNMT3A (Q9Y6K1)
S42N (p.Ser42Asn) in DNMT3A (Q9Y6K1) 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 and structural context.
S42N (p.Ser42Asn) variant details
- p.Ser42Asn
- Ensembl rs2149405210
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.29
- MetaLR 0.63
- MetaSVM 0.53
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available