R99S (p.Arg99Ser) variant of ABCA3 (Q99758)
R99S (p.Arg99Ser) 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.
R99S (p.Arg99Ser) variant details
- p.Arg99Ser
- gnomAD rs1240908252
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.27
- CADD 9.61
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available