T27A (p.Thr27Ala) variant of SFTPB (P07988)
T27A (p.Thr27Ala) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- gnomAD rs1471042409
- Missense
- Variant Prioritization Score for Impact Estimate 0.0697
- REVEL 0.07
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available