P15T (p.Pro15Thr) variant of SFTPB (P07988)
P15T (p.Pro15Thr) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD rs1250074206
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.14
- CADD 18.60
- PolyPhen-2 0.38
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available