P73S (p.Pro73Ser) variant of ABCA3 (Q99758)
P73S (p.Pro73Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- cosmic curated COSV57061
- ExAC rs746805427
- gnomAD rs746805427
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.38
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available