E85K (p.Glu85Lys) variant of SFTPB (P07988)
E85K (p.Glu85Lys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- cosmic curated COSV10464
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.45
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available