L10F (p.Leu10Phe) variant of ABCA3 (Q99758)
L10F (p.Leu10Phe) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- Ensembl rs2093734533
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.79
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available