P111R (p.Pro111Arg) variant of ABCA3 (Q99758)
P111R (p.Pro111Arg) 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.
P111R (p.Pro111Arg) variant details
- p.Pro111Arg
- ExAC rs749005692
- TOPMed rs749005692
- gnomAD rs749005692
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.28
- CADD 14.00
- PolyPhen-2 0.02
- SIFT 0.34
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available