K21E (p.Lys21Glu) variant of ABCA3 (Q99758)
K21E (p.Lys21Glu) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- gnomAD rs1325162461
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available