A70V (p.Ala70Val) variant of DNMT3A (Q9Y6K1)
A70V (p.Ala70Val) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- rs746884153
- ClinGen CA1556510
- ClinVar RCV003072568
- ClinVar RCV003427560
- Uncertain significance
- not provided; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.15
- MetaLR 0.64
- MetaSVM -0.13
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not provided; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)