N129I (p.Asn129Ile) variant of SFTPB (P07988)
N129I (p.Asn129Ile) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N129I (p.Asn129Ile) variant details
- p.Asn129Ile
- Ensembl rs1416151726
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.18
- CADD 19.80
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available