D3N (p.Asp3Asn) variant of SLC22A5 (O76082)
D3N (p.Asp3Asn) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- gnomAD 5-132369979-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.36
- CADD 25.60
- PolyPhen-2 0.56
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available