P20Q (p.Pro20Gln) variant of SFTPB (P07988)
P20Q (p.Pro20Gln) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD rs1240915089
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.24
- CADD 12.50
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available