Q48K (p.Gln48Lys) variant of SFTPB (P07988)
Q48K (p.Gln48Lys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q48K (p.Gln48Lys) variant details
- p.Gln48Lys
- ExAC rs768442204
- gnomAD rs768442204
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.29
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available