P76L (p.Pro76Leu) variant of SFTPC (Surfactant protein C)
P76L (p.Pro76Leu) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- cosmic curated COSV10511
- ExAC rs201454136
- TOPMed rs201454136
- gnomAD rs201454136
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 12.20
- PolyPhen-2 0.07
- SIFT 0.39
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.045)
- Structural context available