P2A (p.Pro2Ala) variant of DNMT1 (P26358)
P2A (p.Pro2Ala) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- ExAC rs763647098
- gnomAD rs763647098
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.15
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available