D39N (p.Asp39Asn) variant of RNF207 (RING finger protein 207)
D39N (p.Asp39Asn) in RNF207 (RING finger protein 207) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- gnomAD 1-6206650-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.50
- CADD 27.10
- PolyPhen-2 0.71
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available