T27N (p.Thr27Asn) variant of SFTPB (P07988)
T27N (p.Thr27Asn) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T27N (p.Thr27Asn) variant details
- p.Thr27Asn
- TOPMed rs1270553539
- gnomAD rs1270553539
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.09
- CADD 13.60
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available