H62R (p.His62Arg) variant of SFTPB (P07988)
H62R (p.His62Arg) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H62R (p.His62Arg) variant details
- p.His62Arg
- gnomAD rs1677723407
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- CADD 15.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available