P14R (p.Pro14Arg) variant of SHANK3 (Q9BYB0)
P14R (p.Pro14Arg) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- rs2146765578
- gnomAD 22-50674652-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.04
- CADD 23.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available