W39R (p.Trp39Arg) variant of SFTPB (P07988)
W39R (p.Trp39Arg) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
W39R (p.Trp39Arg) variant details
- p.Trp39Arg
- ExAC rs771970362
- gnomAD rs771970362
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.56
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available