N129K (p.Asn129Lys) variant of SFTPB (P07988)
N129K (p.Asn129Lys) 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.
N129K (p.Asn129Lys) variant details
- p.Asn129Lys
- ExAC rs758573590
- TOPMed rs758573590
- gnomAD rs758573590
- cosmic curated COSV60893
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.13
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available