A44V (p.Ala44Val) variant of PADI4 (Q9UM07)
A44V (p.Ala44Val) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- ExAC rs775636673
- TOPMed rs775636673
- gnomAD rs775636673
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.13
- CADD 14.00
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available