N101K (p.Asn101Lys) variant of SFTPB (P07988)
N101K (p.Asn101Lys) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
N101K (p.Asn101Lys) variant details
- p.Asn101Lys
- ExAC rs772677222
- TOPMed rs772677222
- gnomAD rs772677222
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.084
- REVEL 0.11
- CADD 0.03
- PolyPhen-2 0.03
- SIFT 0.21
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available