V4A (p.Val4Ala) variant of SLC22A1 (O15245)
V4A (p.Val4Ala) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- TOPMed rs1779938811
- gnomAD rs1779938811
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.33
- CADD 16.60
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available