Q8R (p.Gln8Arg) variant of SFTPB (P07988)
Q8R (p.Gln8Arg) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Q8R (p.Gln8Arg) variant details
- p.Gln8Arg
- cosmic curated COSV60894
- Missense
- Variant Prioritization Score for Impact Estimate 0.0915
- REVEL 0.12
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available