R21W (p.Arg21Trp) variant of SFTPC (Surfactant protein C)
R21W (p.Arg21Trp) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R21W (p.Arg21Trp) variant details
- p.Arg21Trp
- cosmic curated COSV59345
- gnomAD rs1189313783
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 24.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available