V39M (p.Val39Met) variant of SFTPC (Surfactant protein C)
V39M (p.Val39Met) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Surfactant metabolism dysfunction, pulmonary, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- rs183533911
- ClinGen CA4663907
- cosmic curated COSV59345
- ClinVar RCV000224142
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 22.50
- PolyPhen-2 0.66
- SIFT 0.07
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 2; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available