P58R (p.Pro58Arg) variant of ABCA3 (Q99758)
P58R (p.Pro58Arg) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P58R (p.Pro58Arg) variant details
- p.Pro58Arg
- ExAC rs749485914
- TOPMed rs749485914
- gnomAD rs749485914
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.18
- CADD 21.50
- PolyPhen-2 0.10
- SIFT 0.19
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available