P32S (p.Pro32Ser) variant of DNMT3A (Q9Y6K1)
P32S (p.Pro32Ser) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- Ensembl rs2149405318
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.18
- MetaLR 0.39
- MetaSVM -0.64
- CADD 7.19
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available