P104S (p.Pro104Ser) variant of SFTPB (P07988)
P104S (p.Pro104Ser) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P104S (p.Pro104Ser) variant details
- p.Pro104Ser
- gnomAD rs1245393843
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.65
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available